27 research outputs found
Criteria for specimen collection in special situations of Newborn Screening. Review
La espectrometría de masas en tándem (MS-MS) ha permitido ampliar el alcance
del cribado neonatal. Eso hace más complicado determinar el momento más adecuado para la
toma de muestra, sobre todo en recién nacidos prematuros y/o bajo peso y/o ingresados en
unidades neonatales. El objetivo del presente estudio ha sido revisar las normas de toma de
muestra de los distintos programas en estas situaciones, a nivel nacional e internacional.
Se obtienen los datos a través de páginas web de salud pública, de plataformas de búsqueda
o por contacto con los centros.
Existe gran disparidad de criterios para la toma de una nueva muestra, incluso dentro de
un mismo país. La limitación de información disponible, hizo imposible obtener resultados de
muchos países, en particular de África, Asia o Latinoamérica.
A pesar de que cada vez más estados se acogen a las recomendaciones del Clinical and
Laboratory Standards Institute u otros organismos internacionales, el aumento del coste que
implica, hace muy difícil conseguir la estandarización.The most significant breakthrough in the newborn screening (NBS) programs was
the introduction of the tandem mass spectrometry (MS-MS) to the laboratory, which makes it
possible to detect multiple disorders. However, it is difficult to choose the ideal time for the
specimen collection, particularly in preterm, low birth weight, and sick newborns.
The aim of this study was to revise the protocols, in national and international programs for
specimen collection in these newborns.
Data were collected from web pages of public health, internet searches, and contact with
the laboratories.
The results showed a great disparity in criteria for a new specimen collection, as well as
among different centres within a country. It has been difficult to obtain this information from
many countries in Africa, Asia, and Latin America.
Although an increasing number of laboratories follow the recommendations of the Clinical
and Laboratory Standards Institute or other international guidelines, the increased cost involved
makes standardisation difficult.info:eu-repo/semantics/publishedVersio
Criteria for specimen collection in special situations of Newborn Screening. Review
La espectrometría de masas en tándem (MS-MS) ha permitido ampliar el alcance
del cribado neonatal. Eso hace más complicado determinar el momento más adecuado para la
toma de muestra, sobre todo en recién nacidos prematuros y/o bajo peso y/o ingresados en
unidades neonatales. El objetivo del presente estudio ha sido revisar las normas de toma de
muestra de los distintos programas en estas situaciones, a nivel nacional e internacional.
Se obtienen los datos a través de páginas web de salud pública, de plataformas de búsqueda
o por contacto con los centros.
Existe gran disparidad de criterios para la toma de una nueva muestra, incluso dentro de
un mismo país. La limitación de información disponible, hizo imposible obtener resultados de
muchos países, en particular de África, Asia o Latinoamérica.
A pesar de que cada vez más estados se acogen a las recomendaciones del Clinical and
Laboratory Standards Institute u otros organismos internacionales, el aumento del coste que
implica, hace muy difícil conseguir la estandarización.The most significant breakthrough in the newborn screening (NBS) programs was
the introduction of the tandem mass spectrometry (MS-MS) to the laboratory, which makes it
possible to detect multiple disorders. However, it is difficult to choose the ideal time for the
specimen collection, particularly in preterm, low birth weight, and sick newborns.
The aim of this study was to revise the protocols, in national and international programs for
specimen collection in these newborns.
Data were collected from web pages of public health, internet searches, and contact with
the laboratories.
The results showed a great disparity in criteria for a new specimen collection, as well as
among different centres within a country. It has been difficult to obtain this information from
many countries in Africa, Asia, and Latin America.
Although an increasing number of laboratories follow the recommendations of the Clinical
and Laboratory Standards Institute or other international guidelines, the increased cost involved
makes standardisation difficult.info:eu-repo/semantics/publishedVersio
Total and Subtypes of Dietary Fat Intake and Its Association with Components of the Metabolic Syndrome in a Mediterranean Population at High Cardiovascular Risk
Background: The effect of dietary fat intake on the metabolic syndrome (MetS) and in turn on cardiovascular disease (CVD) remains unclear in individuals at high CVD risk. Objective: To assess the association between fat intake and MetS components in an adult Mediterranean population at high CVD risk. Design: Baseline assessment of nutritional adequacy in participants (n = 6560, men and women, 55-75 years old, with overweight/obesity and MetS) in the PREvención con DIeta MEDiterránea (PREDIMED)-Plus randomized trial. Methods: Assessment of fat intake (total fat, monounsatured fatty acids: MUFA, polyunsaturated fatty acids: PUFA, saturated fatty acids: SFA, trans-fatty acids: trans-FA, linoleic acid, α-linolenic acid, and ω-3 FA) using a validated food frequency questionnaire, and diet quality using 17-item Mediterranean dietary questionnaire and fat quality index (FQI). Results: Participants in the highest quintile of total dietary fat intake showed lower intake of energy, carbohydrates, protein and fiber, but higher intake of PUFA, MUFA, SFA, TFA, LA, ALA and ω-3 FA. Differences in MetS components were found according to fat intake. Odds (5th vs. 1st quintile): hyperglycemia: 1.3-1.6 times higher for total fat, MUFA, SFA and ω-3 FA intake; low high-density lipoprotein cholesterol (HDL-c): 1.2 higher for LA; hypertriglyceridemia: 0.7 lower for SFA and ω-3 FA intake. Conclusions: Dietary fats played different role on MetS components of high CVD risk patients. Dietary fat intake was associated with higher risk of hyperglycemia
Treatment with tocilizumab or corticosteroids for COVID-19 patients with hyperinflammatory state: a multicentre cohort study (SAM-COVID-19)
Objectives: The objective of this study was to estimate the association between tocilizumab or corticosteroids and the risk of intubation or death in patients with coronavirus disease 19 (COVID-19) with a hyperinflammatory state according to clinical and laboratory parameters.
Methods: A cohort study was performed in 60 Spanish hospitals including 778 patients with COVID-19 and clinical and laboratory data indicative of a hyperinflammatory state. Treatment was mainly with tocilizumab, an intermediate-high dose of corticosteroids (IHDC), a pulse dose of corticosteroids (PDC), combination therapy, or no treatment. Primary outcome was intubation or death; follow-up was 21 days. Propensity score-adjusted estimations using Cox regression (logistic regression if needed) were calculated. Propensity scores were used as confounders, matching variables and for the inverse probability of treatment weights (IPTWs).
Results: In all, 88, 117, 78 and 151 patients treated with tocilizumab, IHDC, PDC, and combination therapy, respectively, were compared with 344 untreated patients. The primary endpoint occurred in 10 (11.4%), 27 (23.1%), 12 (15.4%), 40 (25.6%) and 69 (21.1%), respectively. The IPTW-based hazard ratios (odds ratio for combination therapy) for the primary endpoint were 0.32 (95%CI 0.22-0.47; p < 0.001) for tocilizumab, 0.82 (0.71-1.30; p 0.82) for IHDC, 0.61 (0.43-0.86; p 0.006) for PDC, and 1.17 (0.86-1.58; p 0.30) for combination therapy. Other applications of the propensity score provided similar results, but were not significant for PDC. Tocilizumab was also associated with lower hazard of death alone in IPTW analysis (0.07; 0.02-0.17; p < 0.001).
Conclusions: Tocilizumab might be useful in COVID-19 patients with a hyperinflammatory state and should be prioritized for randomized trials in this situatio
Relationship between olive oil consumption and ankle-brachial pressure index in a population at high cardiovascular risk
The aim of this study was to ascertain the association between the consumption of different categories of edible olive oils (virgin olive oils and olive oil) and olive pomace oil and ankle-brachial pressure index (ABI) in participants in the PREDIMED-Plus study, a trial of lifestyle modification for weight and cardiovascular event reduction in individuals with overweight/obesity harboring the metabolic syndrome.
Methods: We performed a cross-sectional analysis of the PREDIMED-Plus trial. Consumption of any category of olive oil and olive pomace oil was assessed through a validated food-frequency questionnaire. Multivariable linear regression models were fitted to assess associations between olive oil consumption and ABI. Additionally, ABI ≤1 was considered as the outcome in logistic models with different categories of olive oil and olive pomace oil as exposure.
Results: Among 4330 participants, the highest quintile of total olive oil consumption (sum of all categories of olive oil and olive pomace oil) was associated with higher mean values of ABI (beta coefficient: 0.014, 95% confidence interval [CI]: 0.002, 0.027) (p for trend = 0.010). Logistic models comparing the consumption of different categories of olive oils, olive pomace oil and ABI ≤1 values revealed an inverse association between virgin olive oils consumption and the likelihood of a low ABI (odds ratio [OR] 0.73, 95% CI [0.56, 0.97]), while consumption of olive pomace oil was positively associated with a low ABI (OR 1.22 95% CI [1.00, 1.48]).
Conclusions: In a Mediterranean population at high cardiovascular risk, total olive oil consumption was associated with a higher mean ABI. These results suggest that olive oil consumption may be beneficial for peripheral artery disease prevention, but longitudinal studies are needed
Impacto de la inclusión de pruebas de segundo nivel en el programa de cribado neonatal de Cataluña y en otros programas internacionales
Background: Newborn screening programmes
(NBSP) have experienced a qualitative breakthrough
due to the implementation of tandem mass spectrometry.
However, the tests used give rise to false positives (FP)
generating an excessive request for second samples with
the consequent anxiety of the families. In order to avoid this
problem several programmes have developed second-tier
tests (2TT).
Methods: This article presents our experience in the
implementation of 2TT in the NBSP of Catalonia, as well
as in other international programmes.
Results: From 2004 to the present, 2TT tests have been
developed for more than 30 diseases. The use of 2TT helps
to decrease the FP rate and increase the positive predictive
value (PPV). In the NBSP of Catalonia, the implementation
of 2TT for the detection of methylmalonic and propionic
acidemias, homocystinurias, maple syrup disease and citrulinaemia,
has managed to increase the PPV to 95% and decrease
the PF rate to less than 0.01%. In cystic fibrosis, the
application of 2TT slightly increases PPV but with a significant
decrease in the request for second samples and in the
number of cases referred to clinical units.
Conclusions: The introduction of 2TT in the NBSP
allows to reduce considerably the FP, decreases the number
of requested samples, as well as both anxiety and stress
of the families, at the same time that the hospital costs are
reduced and the PPV is increased, improving notably the
efficiency of the NBSP.Fundamentos: Los programas de cribado neonatal
(PCN) han experimentado un gran avance cualitativo debido
a la implementación de la espectrometría de masas en
tándem. Sin embargo, las pruebas utilizadas dan lugar a falsos
positivos (FP) generando una excesiva solicitud de segundas
muestras con la consiguiente ansiedad de las familias.
Con el fin de evitar este problema diversos programas
han desarrollado pruebas de segundo nivel (2TT).
Métodos: En este artículo se presenta nuestra experiencia
en la implementación de 2TT en el PCN de
Cataluña, así como en otros programas internacionales.
Resultados: Desde el año 2004 hasta la actualidad
se han desarrollado pruebas de 2TT para más de 30 enfermedades.
La utilización de 2TT ayuda a disminuir la tasa
de FP y aumentar el valor predictivo positivo (VPP). En el
PCN de Cataluña, la implementación de 2TT para la detección
de acidemias metilmalónicas y propiónica, homocistinurias,
jarabe de arce y citrulinemia, ha conseguido aumentar
el VPP a un 95% y disminuir la tasa de FP a menos del
0,01%. En la fibrosis quística la aplicación de 2TT aumenta
ligeramente el VPP pero con disminución significativa de
la solicitud de segundas muestras y de los casos referidos a
las unidades clínicas.
Conclusiones: La introducción de los 2TT en los
PCN permite reducir considerablemente los FP, disminuye
el número de muestras solicitadas, así como la ansiedad y
el estrés de las familias, a la vez que se reducen los costes
hospitalarios y se aumenta el VPP, mejorando notablemente
la eficiencia de los PCN
Análisis de la implementación de un sistema de transporte unificado de las muestras de cribado neonatal en Cataluña
The Neonatal Screening Program in Catalonia from its
inception fifty years ago until today, has enabled the early
diagnosis and treatment of more than 2,000 newborns. In
the last decade, the Program has undergone various extensions
regarding its panel of diseases and has improved its
evaluation with the inclusion of quality indicators in all
its stages.
One of the pending subjects of the screening program
has been the improvement of the quality indexes related to
the sample’s arrival time to the laboratory after their extraction.
The extension of the territory, the dispersion of numerous
maternal centers, as well as the diversity and heterogeneity
of the sample transport systems, have been an
obstacle to quality compliance of these indexes.
With the aim of reducing the period of samples arrival
to the laboratory and continue to move towards meeting the
standards established by the Ministry of Health, in 2020 a
unified sample transport system has been implemented for
the entire Catalan territory. The times obtained during the
first months with the new system, have shown a notable improvement
in the results, achieving a reduction of 50% of
the days between the extraction of the sample and its arrival
at the laboratory.El Programa de Cribado Neonatal (PCN) de Cataluña
ha permitido el diagnóstico y tratamiento precoz de más de
2.000 recién nacidos desde su inicio hace cincuenta años
hasta la actualidad. En la última década, el PCN ha experimentado
diversas ampliaciones en cuanto a su panel de
enfermedades y ha mejorado su evaluación con la inclusión
de indicadores de calidad en todas sus etapas.
Una de las asignaturas pendientes del programa de cribado
ha sido la mejora de los indicadores relativos al tiempo
de llegada de las muestras al laboratorio desde su extracción.
La extensión territorial, la dispersión de los sesenta
y seis centros maternales, así como la diversidad y heterogeneidad
de los sistemas de transporte de muestras, han
supuesto un obstáculo para el cumplimiento de la calidad
de este indicador.
Con el objetivo de reducir el período de llegada de las
muestras al laboratorio y seguir avanzando en el cumplimiento
de los estándares establecidos por el Ministerio de
Sanidad, en 2020 se ha implementado un sistema de transporte
de muestras unificado para todo el territorio catalán.
Los tiempos obtenidos durante los primeros meses con el
nuevo sistema muestran una mejora notable de los resultados,
consiguiendo una reducción del 50% de los días transcurridos
desde la extracción de la muestra hasta su llegada
al laboratorio
Respuesta del laboratorio de cribado neonatal de Cataluña ante la pandemia por SARS-CoV-2
Faced with the prospect of a collapsed health system
due to the COVID-19 pandemic, the professionals involved
in the Neonatal Screening Programme (NSP) of
Catalonia had to adapt to this situation in a flexible, forceful
and efficient manner. The most important goals were
to prevent the risk of infection in the professionals, in families
and their newborns, as well as to ensure the same
effectiveness for the early detection of the diseases included
in our programme.
To this end, the laboratory was reorganised by dividing
the staff into groups and the spaces were redistributed. It
was also necessary to modify several protocols and circuits,
especially for the management of early discharges
from maternity centres, and for the collection of the necessary
second samples (from newborns with inconclusive
results or for low quality samples). In general, a 36%
reduction in the time of arrival of these second samples at
the laboratory was achieved with respect to the previous
circuit. In the specific case of cystic fibrosis detection, the
implementation of a new strategy meant a 100% reduction
in the request for second samples and a 70% reduction in
the age of diagnosis of the newborn.
After evaluating these changes, it can be concluded
that in the face of the pandemic, the NSP of Catalonia
showed determined leadership, aligning all its professionals,
ensuring the continuity of the activity in the programme
and generating new opportunities. The new processes
and circuits implemented have been definitively
consolidated, improving the efficiency of the programme.Ante la crisis de un sistema sanitario colapsado debido
a la pandemia por la COVID-19, los profesionales
implicados en el Programa de Cribado Neonatal (PCN)
de Cataluña nos tuvimos que adaptar a dicha situación de
forma ágil, contundente y eficiente. Los objetivos prioritarios
fueron prevenir el riesgo de contagio tanto en los
profesionales sanitarios como en las familias y sus recién
nacidos, así como asegurar la misma eficacia para la detección
precoz de las enfermedades incluidas en el PCN.
Para ello, se reorganizó el laboratorio dividiendo en
grupos al personal y se redistribuyeron los espacios.
También fue necesario modificar varios protocolos y circuitos,
en especial para la gestión de las altas precoces
de los centros maternales y para la toma de las segundas
muestras necesarias (de recién nacidos que presentaron
resultados dudosos o por muestra inválida). En general, se
consiguió una reducción del 36% del tiempo de llegada de
estas segundas muestras al laboratorio respecto al circuito
anterior. Para la detección de la fibrosis quística, la implementación
de una nueva estrategia supuso una reducción
del 100% en la solicitud de segundas muestras y del 70%
en la edad de diagnóstico del recién nacido.
Tras la evaluación de estos cambios, se puede concluir
que ante la pandemia el PCN de Cataluña mostró
un liderazgo decidido, alineando a todos sus profesionales,
asegurando la continuidad de la actividad en el programa
y generando nuevas oportunidades. Los nuevos
procesos y circuitos de trabajo implantados han quedado
definitivamente consolidados, mejorando la eficiencia
del programa
Primer programa europeo de cribado neonatal para la inmunodeficiencia combinada grave: experiencia de tres años en Cataluña
Severe combined immunodeficiency (SCID), the most
severe form of T-cell immunodeficiency, can be screened
at birth by quantifying T-cell receptor excision circles
(TREC) in dried blood spot (DBS) samples. Early detection
of this condition speeds up the establishment of
appropriate treatment and increases the patient’s life expectancy.
Newborn screening for SCID started in January
2017 in Catalonia, the first Spanish and European region
to universally include this testing. The results obtained
in the first three years and a half of experience (January
2017 – June 2020) are shown here, using EnLite Neonatal
TREC kit (Perkin Elmer) with 20 copies/μL as TREC detection
cutoff. Of 222,857 newborns screened, 48 tested
positive: three patients were diagnosed with SCID (incidence
1:74,285); 17 patients had clinically significant
T-cell lymphopenia (non-SCID) with an incidence of 1 in
13,109 newborns; twenty two patients were considered
false-positive cases because of an initially normal lymphocyte
count with normalization of TREC between 3 and
6 months of life; one case had transient lymphopenia due
to an initially low lymphocyte count with recovery in the
following months; and five patients are still under study.
The results obtained provide further evidence of the
benefits of including this disease in newborn screening
programs. Even longer follow-up could be necessary to
define the exact incidence of SCID in Catalonia.La inmunodeficiencia combinada grave (IDCG) es
la forma más grave de inmunodeficiencia primaria, que
afecta sobre todo a los linfocitos T, y puede ser detectada
al nacer mediante la cuantificación de los círculos de escisión
del receptor de linfocitos T (TREC) en una muestra
de sangre impregnada en papel (DBS). La detección precoz
de esta enfermedad permite establecer de forma temprana
un tratamiento adecuado en el paciente, permitiendo
así su curación. El cribado neonatal de IDCG comenzó
en Cataluña en enero de 2017, siendo la primera región
española y europea en incluirla oficial y universalmente
en su programa. En el presente trabajo se presentan los resultados
obtenidos durante los tres primeros años y medio
de experiencia (enero 2017 – junio 2020) empleando el kit
EnLite Neonatal TREC (Perkin Elmer), con un cutoff de
detección de TREC de 20 copias/μL. De 222.857 recién
nacidos analizados, cuarenta y ocho fueron detecciones
positivas: tres casos de IDCG (incidencia de 1:74.285);
diecisiete casos de linfopenia T no IDCG (incidencia de
1:13.109); veintidós casos falsos positivos (recuento de
linfocitos inicialmente normal, con normalización de
TREC entre los tres y seis meses de vida); un caso con
linfopenia transitoria (con un recuento de linfocitos inicialmente
bajo, que se normaliza en los meses siguientes);
y cinco pacientes se encuentran todavía en estudio.
Los resultados obtenidos aportan evidencias de los beneficios
que supone incluir esta enfermedad en los programas
de cribado neonatal. Podría ser necesario un seguimiento
todavía más prolongado para acabar de definir
la incidencia exacta de IDCG en Cataluña